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rs10513025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.1 >0.55x reduced risk for autism
(C;T) 2 0.55x reduced risk for autism
(T;T) 0.1 normal risk of Autism
ReferenceGRCh38 38.1/141
Chromosome5
Position9623510
is asnp
is mentioned by
dbSNPrs10513025
ebirs10513025
HLIrs10513025
Exacrs10513025
Varsomers10513025
Maprs10513025
PheGenIrs10513025
hapmaprs10513025
1000 genomesrs10513025
hgdprs10513025
ensemblrs10513025
gopubmedrs10513025
geneviewrs10513025
scholarrs10513025
googlers10513025
pharmgkbrs10513025
gwascentralrs10513025
openSNPrs10513025
23andMers10513025
23andMe allrs10513025
SNP Nexus

SNPshotrs10513025
SNPdbers10513025
MSV3drs10513025
GWAS Ctlgrs10513025
GMAF0.05142
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28
rs10513025 is a SNP located in chromosomal region 5p15, in between the SEMA5A and TAS2R1 genes.

Based on a linkage and association mapping study of 1,031 multiplex autism families, rs10513025 was found to be associated with autism, and the expression of SEMA5A was seen to be reduced in brains from autistic patients. Although this finding was replicated, the authors caution that this SNP explains a very small fraction of the heritability of a complex disorder like autism, presumably due to their finding that the most common allele (present at a frequency of ~96%) is the allele associated with higher risk. The much rarer allele, rs10513025(C), is associated with a 0.55x reduced risk for autism (p=9.6x10e-6).10.1038/nature08490

GWAS snp
PMID [PMID 19812673OA-icon.png]
Trait Autism
Title A genome-wide linkage and association scan reveals novel loci for autism
Risk Allele
P-val 3E-7
Odds Ratio 1.81 [NR]
OMIM209850
Desc
Variant
Relatedalso
[PMID 17903299OA-icon.png] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.


GET Evidence
rs10513025
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0625
summary



[PMID 22739633] The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families